Gastrointestinal epithelial barrier disorders
Gene: ADAM17EnsemblGeneIds (GRCh38): ENSG00000151694
EnsemblGeneIds (GRCh37): ENSG00000151694
OMIM: 603639, Gene2Phenotype
ADAM17 is in 6 panels
4 reviews
Olivia Niblock (Genomics England Curator)
Comment when marking as ready: This gene is being marked as ready, having been reviewed internally by the clinical team, by the curation team and by the expert reviewer. 25/07/2018Created: 25 Jul 2018, 4:22 p.m.
Sarah Leigh (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Inflammatory skin and bowel disease, neonatal, 1 614328
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Green review from expert reviewer, and found in 2/4 original sources, though only one family report found for association with neonatal inflammatory bowel disease (a sister and brother with neonatal inflammatory skin and bowel lesions) - PMID: 22010916, after an extensive literature search. There is functional/mouse model evidence to support the association, and ADAM17 is known to have a role in controlling inflammation and tissue regeneration (PMID: 21752713).Created: 12 Oct 2016, 8:54 a.m.
Neil shah (GOSH)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Eligibility statement prior genetic testing
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- ?Inflammatory skin and bowel disease, neonatal, 1 614328
- Gastrointestinal epithelial barrier disorders
- Immunodeficiency 33, 300636
- Immunodeficiency, isolated, 300584
- ?Inflammatory skin and bowel disease, neonatal, 1, 614328
- OMIM
- 603639
- Clinvar variants
- Variants in ADAM17
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Panel promoted to version 1.0
Olivia Niblock (Genomics England Curator)Panel reviews have been assessed and internal clinical team opinion has been sought on this panel, particularly to rule out incidental findings. Panel has been revised through expert review, internal review and literature research. 25/07/2018
Entity classified by Genomics England curator
Olivia Niblock (Genomics England Curator)Gene: adam17 has been classified as Amber List (Moderate Evidence).
Set penetrance
Olivia Niblock (Genomics England Curator)Phenotypes for gene ADAM17 were set to ?Inflammatory skin and bowel disease, neonatal, 1 614328, Gastrointestinal epithelial barrier disorders, Immunodeficiency 33, 300636, Immunodeficiency, isolated, 300584, ?Inflammatory skin and bowel disease, neonatal, 1, 614328
Set penetrance
Olivia Niblock (Genomics England Curator)Phenotypes for gene ADAM17 were set to ?Inflammatory skin and bowel disease, neonatal, 1 614328, Gastrointestinal epithelial barrier disorders, Immunodeficiency 33, 300636, Immunodeficiency, isolated, 300584, ?Inflammatory skin and bowel disease, neonatal, 1, 614328
Added New Source
Olivia Niblock (Genomics England Curator)ADAM17 was added to Gastrointestinal epithelial barrier disorderspanel. Source: Expert list
Created
Sarah Leigh (Genomics England Curator)ADAM17 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)ADAM17 was added to Gastrointestinal epithelial barrier disorderspanel. Sources: Eligibility statement prior genetic testing,Radboud University Medical Center, Nijmegen,UKGTN